A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10449391



Internal ID451207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999395..33002229hg38UCSC Ensembl
Innerchr2:32999395..33002229hg38UCSC Ensembl
Outerchr2:32999395..33002229hg38UCSC Ensembl
chr2:33224462..33227296hg19UCSC Ensembl
Innerchr2:33224462..33227296hg19UCSC Ensembl
Outerchr2:33224462..33227296hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382835
hg192835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590271
Supporting Variants
SamplesHG01049
Known GenesLTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10449391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer